{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1720&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=1680&ordering=identifier","results":[{"identifier":"Deafness, autosomal recessive, 53.","acronym":"DFNB53.","accession":"DI-00876","synonyms":"Non-syndromic neurosensory deafness autosomal recessive type 53.; Non-syndromic sensorineural deafness autosomal recessive type 53.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by prelingual, profound, non-progressive hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 57.","acronym":"DFNB57.","accession":"DI-05260","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic, sensorineural deafness characterized by symmetric, bilateral hearing loss with onset in early childhood. Vestibular function is preserved. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB57 severity ranges from moderate to severe. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 59.","acronym":"DFNB59.","accession":"DI-00877","synonyms":"DFNB59 auditory neuropathy.; ","cross_references":"MeSH; D006319.","definition":"A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 6.","acronym":"DFNB6.","accession":"DI-00857","synonyms":"Deafness neurosensory autosomal recessive 6.; Neurosensory nonsyndromic recessive deafness 6.; Non-syndromic neurosensory deafness autosomal recessive type 6.; Non-syndromic sensorineural deafness autosomal recessive type 6.; NSRD6.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 61.","acronym":"DFNB61.","accession":"DI-02548","synonyms":"Non-syndromic neurosensory deafness autosomal recessive type 61.; Non-syndromic sensorineural deafness autosomal recessive type 61.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 63.","acronym":"DFNB63.","accession":"DI-00878","synonyms":"Non-syndromic neurosensory deafness autosomal recessive type 63.; Non-syndromic sensorineural deafness autosomal recessive type 63.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 66.","acronym":"DFNB66.","accession":"DI-04549","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 67.","acronym":"DFNB67.","accession":"DI-02067","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 68.","acronym":"DFNB68.","accession":"DI-04685","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 7.","acronym":"DFNB7.","accession":"DI-00858","synonyms":"Deafness neurosensory autosomal recessive 11.; Deafness neurosensory autosomal recessive 7.; DFNB11.; Non-syndromic neurosensory deafness autosomal recessive type 7.; Non-syndromic sensorineural deafness autosomal recessive type 7.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 70, with or without adult-onset neurodegeneration.","acronym":"DFNB70.","accession":"DI-03614","synonyms":null,"cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by severe, bilateral hearing impairment with prelingual onset, resulting in inability to acquire normal speech. Affected individuals may develop a neurodegenerative disease in adulthood, including ataxia with loss of ambulation, optic atrophy, dystonia or spasticity, and cognitive decline with psychiatric features. ","keywords":"KW-0523:Neurodegeneration.; KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 74.","acronym":"DFNB74.","accession":"DI-02958","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 76.","acronym":"DFNB76.","accession":"DI-03957","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural deafness, a disorder resulting from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNB76 affected individuals have onset of progressive high frequency hearing impairment between birth and 6 years of age. The hearing loss is severe at high frequencies by adulthood. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 77.","acronym":"DFNB77.","accession":"DI-02528","synonyms":"Non-syndromic neurosensory deafness autosomal recessive type 77.; ","cross_references":"MeSH; D003638.","definition":"A form of non-syndromic deafness characterized by preserved low- frequency hearing, and a trend toward mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 79.","acronym":"DFNB79.","accession":"DI-02596","synonyms":"Non-syndromic neurosensory deafness autosomal recessive type 79.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by progressive and severe sensorineural hearing loss. There are no symptoms of vestibular dysfunction. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 8.","acronym":"DFNB8.","accession":"DI-00859","synonyms":"Childhood-onset neurosensory deafness autosomal recessive 8.; Deafness autosomal recessive 10.; Deafness autosomal recessive 8/10.; Deafness neurosensory autosomal recessive 8.; DFNB10.; Neurosensory nonsyndromic recessive deafness 8.; Non-syndromic neurosensory deafness autosomal recessive type 8.; Non-syndromic sensorineural deafness autosomal recessive type 8.; NSRD8.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 84A.","acronym":"DFNB84A.","accession":"DI-02691","synonyms":"Deafness autosomal recessive 84.; Deafness autosomal recessive 84A with vestibular dysfunction.; Non-syndromic neurosensory deafness autosomal recessive type 84.; ","cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by progressive, sensorineural hearing loss and vestibular dysfunction. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 84B.","acronym":"DFNB84B.","accession":"DI-03565","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by congenital, non- progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely observed. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 86.","acronym":"DFNB86.","accession":"DI-04026","synonyms":null,"cross_references":"MeSH; D006319.","definition":"A form of non-syndromic deafness characterized by prelingual onset of profound sensorineural hearing loss affecting all frequencies. ","keywords":"KW-1010:Non-syndromic deafness.; "},{"identifier":"Deafness, autosomal recessive, 88.","acronym":"DFNB88.","accession":"DI-03888","synonyms":null,"cross_references":"MeSH; D046089.","definition":"A form of non-syndromic deafness characterized by prelingual onset of severe to profound mixed conductive and sensorineural hearing loss. ","keywords":"KW-1010:Non-syndromic deafness.; "}]}